ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_9900 | A sequence alteration has been identified in PROP1 (PROP paired-like homeobox 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Pituitary hormone deficiency, combined, 2 | TCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTC... | TCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTC... |
Task1_train_9901 | The gene PROP1 (PROP paired-like homeobox 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pituitary hormone deficiency, combined, 2 | CCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCT... | CCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCT... |
Task1_train_9902 | A mutation found in NHP2, RMND5B (NHP2 ribonucleoprotein| required for meiotic nuclear division 5 homolog B) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dyskeratosis congenita, autosomal recessive 2 | TTCGCTGCCCTTCCCAGATTGAGATTGAACTAGGCATGAAGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTG... | TTCGCTGCCCTTCCCAGATTGAGATTGAACTAGGCATGAAGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTG... |
Task1_train_9903 | An alteration has been detected in NHP2, RMND5B (NHP2 ribonucleoprotein| required for meiotic nuclear division 5 homolog B) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dyskeratosis congenita, autosomal recessive 2 | AGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCA... | AGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCA... |
Task1_train_9904 | The variant affects gene PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Phosphohydroxylysinuria | CCCAAGTAAAGTTAGCATCCTGGTCTCTGATCCTCTGCTTGGGTCTCTCAGATGCAGGGTTGGGCCCAGGGCCCTTATACACCAGAACAGCAGCCCCTTGGCTTCTGCCTGAGTTGCCACAGTAACCCTGCCACCCCAAAGGGCAGGATTTCCTCCATCCTAGCTCCTGCGTATGCTAAATGGTCCACGGGCCCCTGTGCCCTGCTCCCCCCACAGGTCAGAGTCAGAGTTGGAATCAGGGCTACGGCAACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTACGGGCCTGGCTATGGCGGCTACGACTACTCGCCC... | CCCAAGTAAAGTTAGCATCCTGGTCTCTGATCCTCTGCTTGGGTCTCTCAGATGCAGGGTTGGGCCCAGGGCCCTTATACACCAGAACAGCAGCCCCTTGGCTTCTGCCTGAGTTGCCACAGTAACCCTGCCACCCCAAAGGGCAGGATTTCCTCCATCCTAGCTCCTGCGTATGCTAAATGGTCCACGGGCCCCTGTGCCCTGCTCCCCCCACAGGTCAGAGTCAGAGTTGGAATCAGGGCTACGGCAACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTACGGGCCTGGCTATGGCGGCTACGACTACTCGCCC... |
Task1_train_9905 | Here is a genetic alteration in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Phosphohydroxylysinuria | AGGATATACACTATATACACTACTGGTGGGGTGTTAACTTGTGAACTACTTTAGAAAACAAATGTCATTATCTTTTAAAATGAAGGGTAAACACATACCATATGGGCCAGCAATTCCACCCTCAGGTACAGTCCTAAGAAAAACTCTTGCTACATGTACAACAGAGACTTATGAAAACTATTCAAAGCAGCACTGTTCATAATTGCAAAAAAAAAAAAAAAACAAAAAAAACATGGAACGACCTCAAAGCACAGCAATAGTAATGGATGACTGAACTGTGGTACATTTATACAAAGATTATAAAGCAGTCAAAGCAAATG... | AGGATATACACTATATACACTACTGGTGGGGTGTTAACTTGTGAACTACTTTAGAAAACAAATGTCATTATCTTTTAAAATGAAGGGTAAACACATACCATATGGGCCAGCAATTCCACCCTCAGGTACAGTCCTAAGAAAAACTCTTGCTACATGTACAACAGAGACTTATGAAAACTATTCAAAGCAGCACTGTTCATAATTGCAAAAAAAAAAAAAAAACAAAAAAAACATGGAACGACCTCAAAGCACAGCAATAGTAATGGATGACTGAACTGTGGTACATTTATACAAAGATTATAAAGCAGTCAAAGCAAATG... |
Task1_train_9906 | A variant found in Chromosome 5 affects GRM6, ZNF454 (glutamate metabotropic receptor 6| zinc finger protein 454). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinal dystrophy | TGGCATTGGGAATCTCATGGGGGCGCACCCCAGTTCCTCAGCTCACTCCCGCGCCCACTGCAGGCCCTTCCCATGCTCACAGGGGTCTCACCCAGGGTCTCTCCCTCCGTGCCAGAGGAATCCTACCCAGGCCTGAGTGCCTCCATCCAGATGCACAGCCCCAGGTCTCCTCTTGCTGAGACAGCTCCTCCTCCACTCCAACCCCATGTTTCATTCTGGGGTCTACACGTTCTTCCACACTGCCCAATCCCCAGGTTATGGGGGTTGACTGAGGGGAGGAAATCTCCCGCAAACCAGGCAAAGCCCAGGGCTTCATCATC... | TGGCATTGGGAATCTCATGGGGGCGCACCCCAGTTCCTCAGCTCACTCCCGCGCCCACTGCAGGCCCTTCCCATGCTCACAGGGGTCTCACCCAGGGTCTCTCCCTCCGTGCCAGAGGAATCCTACCCAGGCCTGAGTGCCTCCATCCAGATGCACAGCCCCAGGTCTCCTCTTGCTGAGACAGCTCCTCCTCCACTCCAACCCCATGTTTCATTCTGGGGTCTACACGTTCTTCCACACTGCCCAATCCCCAGGTTATGGGGGTTGACTGAGGGGAGGAAATCTCCCGCAAACCAGGCAAAGCCCAGGGCTTCATCATC... |
Task1_train_9907 | A variant was discovered on Chromosome 5, affecting GRM6, ZNF454 (glutamate metabotropic receptor 6| zinc finger protein 454). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAA... | AAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAA... |
Task1_train_9908 | The gene GRM6 (glutamate metabotropic receptor 6) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GAGAAACAAGAAGGAGAGAGGGAGAGAGAGAGAGAGAAACAACTGAGGAGACCGAGAGACGAGAAAGGCCCAGTGGCCACAGCTCAGTGAATAATGCTGTGGTCCTCCCAGCTCTCCTGGACACTTGAGTTTGGGAACAACCCTCCCATGCCCCCTGGACCTCCTGAGGGAAGTTAATTTAAAATGCCTGCCAGCACGGTCATGTGGCTGGGAAATGAATGTAGTTCTTTTAGACCAGGAATTGCAGCATCTTGCCTGTGGCTGTGTTTTGCACAGTTTTTATTAATGTTTGCATTTCTAGCCGGGCAGCACAACCTCAA... | GAGAAACAAGAAGGAGAGAGGGAGAGAGAGAGAGAGAAACAACTGAGGAGACCGAGAGACGAGAAAGGCCCAGTGGCCACAGCTCAGTGAATAATGCTGTGGTCCTCCCAGCTCTCCTGGACACTTGAGTTTGGGAACAACCCTCCCATGCCCCCTGGACCTCCTGAGGGAAGTTAATTTAAAATGCCTGCCAGCACGGTCATGTGGCTGGGAAATGAATGTAGTTCTTTTAGACCAGGAATTGCAGCATCTTGCCTGTGGCTGTGTTTTGCACAGTTTTTATTAATGTTTGCATTTCTAGCCGGGCAGCACAACCTCAA... |
Task1_train_9909 | A sequence alteration has been identified in HNRNPH1, LOC128966623 (heterogeneous nuclear ribonucleoprotein H1| uncharacterized LOC128966623) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | GGCCCCCGTAGCTGGACTGGTTTGCTGTTAAGTTAAGAAAACATTAGAACCTTTTTTCTTATGTGATGTGGTACCTGGTGGTACCGGGCTTGTAATTCTATAGCTATCATTTTCCAGTCTTGATCTTACATTACTGTAACCCTCTGCCTCCTTCTGCCTACTGTCTATAACCAGGCCACCCTTCTATCCATCATTTGAGCCAGTCAAATATTGATAAACCAAAGTGCTAACGGTACACACATCAGCAGGACTAAAATCAACATGATTCCGTAAGTAGAGGCATTTTGTGAAGATCTTATGAAACTGCTTGACTGGATTTA... | GGCCCCCGTAGCTGGACTGGTTTGCTGTTAAGTTAAGAAAACATTAGAACCTTTTTTCTTATGTGATGTGGTACCTGGTGGTACCGGGCTTGTAATTCTATAGCTATCATTTTCCAGTCTTGATCTTACATTACTGTAACCCTCTGCCTCCTTCTGCCTACTGTCTATAACCAGGCCACCCTTCTATCCATCATTTGAGCCAGTCAAATATTGATAAACCAAAGTGCTAACGGTACACACATCAGCAGGACTAAAATCAACATGATTCCGTAAGTAGAGGCATTTTGTGAAGATCTTATGAAACTGCTTGACTGGATTTA... |
Task1_train_9910 | This variant lies on Chromosome 5 and affects the gene SQSTM1 (sequestosome 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | GAGCCTGCGGGGTGGGACTGCATCGGGAAAGGGGAAGGAGTCAGAGGCGAGAAGGGGGAGAGTGTCTGTCTGGCTCCAGCCGCTGCACGCTCTTCCTGCTCAGGGGACTCACGGTGACCCCGGAGCCACTCCCCAGCCCAGCCTCCAGGTAAGAGGTCACTGAGATGGGTGGCAGCAGGGGCCGGGGATCCCCCTATTACGACAGCGGTCATGGGACGCTGACTCACTGCCGGCCAGACCACCTGACCTCCGCGGCGGGAGGAGAGGGCCCTGCCAGGGGGTTCCCGCCGCGCCTTGTTTACCTCCGGGAGGCCTCGGCC... | GAGCCTGCGGGGTGGGACTGCATCGGGAAAGGGGAAGGAGTCAGAGGCGAGAAGGGGGAGAGTGTCTGTCTGGCTCCAGCCGCTGCACGCTCTTCCTGCTCAGGGGACTCACGGTGACCCCGGAGCCACTCCCCAGCCCAGCCTCCAGGTAAGAGGTCACTGAGATGGGTGGCAGCAGGGGCCGGGGATCCCCCTATTACGACAGCGGTCATGGGACGCTGACTCACTGCCGGCCAGACCACCTGACCTCCGCGGCGGGAGGAGAGGGCCCTGCCAGGGGGTTCCCGCCGCGCCTTGTTTACCTCCGGGAGGCCTCGGCC... |
Task1_train_9911 | A sequence alteration has been identified in SQSTM1 (sequestosome 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG... | TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG... |
Task1_train_9912 | Here is a variant affecting SQSTM1 (sequestosome 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Paget disease of bone 2, early-onset | TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG... | TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG... |
Task1_train_9913 | A sequence alteration has been identified in SQSTM1 (sequestosome 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; SQSTM1-related disorder | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... |
Task1_train_9914 | This alteration occurs within gene SQSTM1 (sequestosome 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Paget disease of bone 2, early-onset | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... |
Task1_train_9915 | This sequence change occurs on Chromosome 5, altering SQSTM1 (sequestosome 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... | TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGA... |
Task1_train_9916 | A genetic alteration is present in SQSTM1 (sequestosome 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGAT... | ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGAT... |
Task1_train_9917 | Given this context: Chromosome 5, gene SQSTM1 (sequestosome 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Paget disease of bone 2, early-onset | ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGAT... | ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGAT... |
Task1_train_9918 | A genetic alteration is present in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TCTCAAAAAAATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCC... | TCTCAAAAAAATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCC... |
Task1_train_9919 | The gene FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary lymphedema type I | AATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCA... | AATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCA... |
Task1_train_9920 | A variant affecting Chromosome 5, within the gene FLT4 (fms related receptor tyrosine kinase 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary lymphedema type I | CTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGA... | CTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGA... |
Task1_train_9921 | This alteration in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; FLT4-related disorder | ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGC... | ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGC... |
Task1_train_9922 | A mutation found in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary lymphedema type I | ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGC... | ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGC... |
Task1_train_9923 | A variant affecting Chromosome 5, within the gene FLT4 (fms related receptor tyrosine kinase 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary lymphedema type I | GGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCAC... | GGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCAC... |
Task1_train_9924 | This is a variant in FLT4 (fms related receptor tyrosine kinase 4), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCC... | TGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCC... |
Task1_train_9925 | Here’s a variant in FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary lymphedema type I | AGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTAC... | AGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTAC... |
Task1_train_9926 | This variant affects gene FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary lymphedema type I | GCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCT... | GCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCT... |
Task1_train_9927 | This variant affects gene FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary lymphedema type I | CCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGAC... | CCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGAC... |
Task1_train_9928 | This sequence change occurs on Chromosome 5, altering FLT4 (fms related receptor tyrosine kinase 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | AGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCAC... | AGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCAC... |
Task1_train_9929 | A mutation in EXOC2, LOC126859547 (exocyst complex component 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | CTTCCTGACAGCAGCCAGGCCACGAGTGACCCCGAGGCCAGCCTGAGTAGAAGGCAGTGTGAAGGGTCACAGGGAAGAAGGATGGAGGCAGCCCTGGGCACTGACTGTGTGACCACGCTGCCAGGCTGCTGTGAGAGACAGAAGTCCCCCCCTGGTGAAAGCCACTGGGATGTGTCGGCCGCTGCCTGGCCATCGTCACTGGCACAGCCACCCACAGGACCGCGAGGGGCACCCGTGAGACAAGTGTGAAAACCCGTGAAATCATGAAGATGATTTTTAAACCTAAAAGTCCCAGCTGAAAAGATGAAGATTCTAGAAAC... | CTTCCTGACAGCAGCCAGGCCACGAGTGACCCCGAGGCCAGCCTGAGTAGAAGGCAGTGTGAAGGGTCACAGGGAAGAAGGATGGAGGCAGCCCTGGGCACTGACTGTGTGACCACGCTGCCAGGCTGCTGTGAGAGACAGAAGTCCCCCCCTGGTGAAAGCCACTGGGATGTGTCGGCCGCTGCCTGGCCATCGTCACTGGCACAGCCACCCACAGGACCGCGAGGGGCACCCGTGAGACAAGTGTGAAAACCCGTGAAATCATGAAGATGATTTTTAAACCTAAAAGTCCCAGCTGAAAAGATGAAGATTCTAGAAAC... |
Task1_train_9930 | A mutation found in EXOC2 (exocyst complex component 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | TTTTACTTTATCCCATGGCTGAGCAAATATTTCTGAAACTTAAGTAACAATCTGTACAGTAACATCAAAATCTGTTAATTTTATTCCCACTGAAGTACTTATTGGATAAATGTACATAATGTTATTTTAAAATTTTAAAACACTTTAGTACCCTGGAATCTTAAGTCATTAAACAAAAACTTTTCCTATGTGGCAGAACAATGAATAGTATATATCCAAGAAGAGCAAAGAATCCTGTAAGGATGAACACTTGTGAGGCACTTGCTATGCTCCAAGTTGTTTACCTCCTCACTTCCTGATTCCTCGCATCGACCCTAAGG... | TTTTACTTTATCCCATGGCTGAGCAAATATTTCTGAAACTTAAGTAACAATCTGTACAGTAACATCAAAATCTGTTAATTTTATTCCCACTGAAGTACTTATTGGATAAATGTACATAATGTTATTTTAAAATTTTAAAACACTTTAGTACCCTGGAATCTTAAGTCATTAAACAAAAACTTTTCCTATGTGGCAGAACAATGAATAGTATATATCCAAGAAGAGCAAAGAATCCTGTAAGGATGAACACTTGTGAGGCACTTGCTATGCTCCAAGTTGTTTACCTCCTCACTTCCTGATTCCTCGCATCGACCCTAAGG... |
Task1_train_9931 | Given this variant in gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTG... | CTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTG... |
Task1_train_9932 | A mutation found in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Axenfeld-Rieger syndrome type 3 | TCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCG... | TCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCG... |
Task1_train_9933 | Assess the clinical impact of this variant on gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Axenfeld-Rieger syndrome type 3 | GCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAAC... | GCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAAC... |
Task1_train_9934 | Here is a mutation in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Axenfeld-Rieger syndrome type 3 | CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACG... | CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACG... |
Task1_train_9935 | This sequence change occurs on Chromosome 6, altering FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Axenfeld-Rieger syndrome type 3 | CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACG... | CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACG... |
Task1_train_9936 | This alteration occurs within gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Axenfeld-Rieger syndrome type 3 | TCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGG... | TCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGG... |
Task1_train_9937 | Here’s a variant in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Axenfeld-Rieger syndrome type 3 | CTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGG... | CTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGG... |
Task1_train_9938 | This mutation occurs in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Anterior segment dysgenesis 3 | CCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCA... | CCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCA... |
Task1_train_9939 | The gene FOXC1 (forkhead box C1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Axenfeld-Rieger syndrome type 3 | GGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTC... | GGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTC... |
Task1_train_9940 | Gene FOXC1 (forkhead box C1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCG... | CTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCG... |
Task1_train_9941 | This variant lies on Chromosome 6 and affects the gene FOXC1 (forkhead box C1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Anterior segment dysgenesis 3 | TCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGG... | TCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGG... |
Task1_train_9942 | Gene FOXC1 (forkhead box C1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; FOXC1-related disorder | TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCC... | TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCC... |
Task1_train_9943 | Here is a genetic alteration in FOXC1 (forkhead box C1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Axenfeld-Rieger syndrome type 3 | TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCC... | TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCC... |
Task1_train_9944 | This variant lies on Chromosome 6 and affects the gene FOXC1 (forkhead box C1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Axenfeld-Rieger syndrome type 3 | TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGG... | TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGG... |
Task1_train_9945 | Consider a variant on Chromosome 6 in gene FOXC1 (forkhead box C1). Determine its clinical classification and disease relevance. | Pathogenic; Axenfeld-Rieger syndrome type 3 | TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGG... | TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGG... |
Task1_train_9946 | This variant affects gene FOXC1 (forkhead box C1) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Axenfeld-Rieger syndrome type 3 | CATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGT... | CATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGT... |
Task1_train_9947 | This variant affects the gene RIPK1 (receptor interacting serine/threonine kinase 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... |
Task1_train_9948 | This sequence variant lies in RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... |
Task1_train_9949 | A variant was discovered in gene RIPK1 (receptor interacting serine/threonine kinase 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autoinflammation with episodic fever and lymphadenopathy | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... | CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGG... |
Task1_train_9950 | Gene RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autoinflammation with episodic fever and lymphadenopathy | ATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGG... | ATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGG... |
Task1_train_9951 | This variant lies on Chromosome 6 and affects the gene RIPK1 (receptor interacting serine/threonine kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; IL10-related early-onset inflammatory bowel disease | CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTAT... | CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTAT... |
Task1_train_9952 | This variant lies on Chromosome 6 and affects the gene RIPK1 (receptor interacting serine/threonine kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn error of immunity | CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTAT... | CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTAT... |
Task1_train_9953 | This alteration occurs within gene RIPK1 (receptor interacting serine/threonine kinase 1) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; IL10-related early-onset inflammatory bowel disease | TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACA... | TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACA... |
Task1_train_9954 | Here is a genetic alteration in RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn error of immunity | TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACA... | TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACA... |
Task1_train_9955 | This sequence change occurs on Chromosome 6, altering TUBB2A (tubulin beta 2A class IIa). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTCTGAACATTTCTTATTTTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAG... | TTCTGAACATTTCTTATTTTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAG... |
Task1_train_9956 | This alteration occurs within gene TUBB2A (tubulin beta 2A class IIa) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGG... | TTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGG... |
Task1_train_9957 | The gene TUBB2A (tubulin beta 2A class IIa) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTT... | TTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTT... |
Task1_train_9958 | A variant found in Chromosome 6 affects TUBB2A (tubulin beta 2A class IIa). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTT... | GGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTT... |
Task1_train_9959 | This mutation occurs in TUBB2A (tubulin beta 2A class IIa) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Complex cortical dysplasia with other brain malformations 5 | AAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACA... | AAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACA... |
Task1_train_9960 | Here is a variant affecting TUBB2A (tubulin beta 2A class IIa) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGG... | ATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGG... |
Task1_train_9961 | Given this variant in gene TUBB2A (tubulin beta 2A class IIa) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGAT... | AGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGAT... |
Task1_train_9962 | Consider a variant on Chromosome 6 in gene TUBB2A (tubulin beta 2A class IIa). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTT... | GCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTT... |
Task1_train_9963 | Here’s a variant in TUBB2B (tubulin beta 2B class IIb) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | TGGAAGCTTTACACCAGCTCAGCAGGAATCACATCTGCCAGTCTGCAGCTAAATATAGAAAACTGAGCTGAAGCCACTGGCTCCAGACACCTGTCTGACCCTACTCATCACTCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTA... | TGGAAGCTTTACACCAGCTCAGCAGGAATCACATCTGCCAGTCTGCAGCTAAATATAGAAAACTGAGCTGAAGCCACTGGCTCCAGACACCTGTCTGACCCTACTCATCACTCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTA... |
Task1_train_9964 | Gene TUBB2B (tubulin beta 2B class IIb) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | TCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTC... | TCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTC... |
Task1_train_9965 | With a mutation on Chromosome 6 in gene TUBB2B (tubulin beta 2B class IIb), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAA... | GGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAA... |
Task1_train_9966 | Here is a mutation in TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | TGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTA... | TGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTA... |
Task1_train_9967 | This gene mutation involves TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAA... | CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAA... |
Task1_train_9968 | A variant on Chromosome 6 in gene TUBB2B (tubulin beta 2B class IIb) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital bilateral perisylvian syndrome | CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAA... | CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAA... |
Task1_train_9969 | A variant was discovered in gene TUBB2B (tubulin beta 2B class IIb), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTG... | CTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTG... |
Task1_train_9970 | This alteration occurs within gene TUBB2B (tubulin beta 2B class IIb) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | AGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCT... | AGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCT... |
Task1_train_9971 | Given a variant located on Chromosome 6 and affecting TUBB2B (tubulin beta 2B class IIb), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | ATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTAT... | ATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTAT... |
Task1_train_9972 | Mutation context: Chromosome 6, Gene TUBB2B (tubulin beta 2B class IIb). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Complex cortical dysplasia with other brain malformations 7 | AGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGAC... | AGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGAC... |
Task1_train_9973 | This mutation is located in gene TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGC... | GGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGC... |
Task1_train_9974 | The variant affects gene LYRM4, LYRM4-AS1 (LYR motif containing 4| LYRM4 antisense RNA 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Combined oxidative phosphorylation deficiency 19 | TAGGGGCAGGGGCACCCGGAGGACAGGTCAGAAGGCTGCTACAGCAGCCAGTTACAGAGAACAGTGTGCAAGAATACAGACTCTCCACCTTGCCATAGGCTGTTAGTCCAAAGGCAACTTACGCCAGCTTGCAGCCAGATGGCCGGGGGAGCCACTGTGCCTTACGCCCTAACTACTGTAAAGGCTGCATGTGGATTCAGGAAGAGTCTTGACATGAAAGGGAAGTGAGTAGAAACTTCCCAGCTGCTGCTGTCTAACTGGTTCTCTGAAGGGATGAGAATGCTTTCATCCCTGAGGTGGTGACAGCAAGCTGTTCTGCA... | TAGGGGCAGGGGCACCCGGAGGACAGGTCAGAAGGCTGCTACAGCAGCCAGTTACAGAGAACAGTGTGCAAGAATACAGACTCTCCACCTTGCCATAGGCTGTTAGTCCAAAGGCAACTTACGCCAGCTTGCAGCCAGATGGCCGGGGGAGCCACTGTGCCTTACGCCCTAACTACTGTAAAGGCTGCATGTGGATTCAGGAAGAGTCTTGACATGAAAGGGAAGTGAGTAGAAACTTCCCAGCTGCTGCTGTCTAACTGGTTCTCTGAAGGGATGAGAATGCTTTCATCCCTGAGGTGGTGACAGCAAGCTGTTCTGCA... |
Task1_train_9975 | Gene FARS2, LOC126859565 (phenylalanyl-tRNA synthetase 2, mitochondrial| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Combined oxidative phosphorylation defect type 14 | TGCCTTTGGGAGGAAGAAAGCTTTTCTTGTGTTTTGGCAAGGGTGCTGAGCTAGGTAGCTAATAACCTAACAGTTTGATTTTGTGCCAAGATGTGTAAGGCTGCATATGCATGTTTAAAATTCATATCCACTGCAGTGACAAGTCACTGAACACTAGATGGGAAGACATTTCAGTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAG... | TGCCTTTGGGAGGAAGAAAGCTTTTCTTGTGTTTTGGCAAGGGTGCTGAGCTAGGTAGCTAATAACCTAACAGTTTGATTTTGTGCCAAGATGTGTAAGGCTGCATATGCATGTTTAAAATTCATATCCACTGCAGTGACAAGTCACTGAACACTAGATGGGAAGACATTTCAGTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAG... |
Task1_train_9976 | Gene FARS2, LOC126859565 (phenylalanyl-tRNA synthetase 2, mitochondrial| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia 77 | GTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTAT... | GTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTAT... |
Task1_train_9977 | Here’s a variant in FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined oxidative phosphorylation defect type 14 | GTGCAAGAGAAGGATAGGGTGCAGTAATGGGATTGATGGAGTCTGTGAGGATACCAAGTGAACAGGGTGGCTGAGGGCCAGAAGTGAGGTAGGGAGGGTGGGAAATTTTATATGGAGAAAGCCACTTAGTGTGTTTAAGAAACCCAGTAGGCTGGGCTGGCCTGAACCTACAGAACGTCGGAAAGAGGTAGAAGCTTTTAGGAATTGGAGGCTTTCTCCTGGGGCAGTGGGGAGCCACAGGATGGTTTTTACCACCACCGCTGGTTAAGCACCTAAAAGAAAGCCCACATCTCAGTAACCATGATCTGTAGTTAGCCTCT... | GTGCAAGAGAAGGATAGGGTGCAGTAATGGGATTGATGGAGTCTGTGAGGATACCAAGTGAACAGGGTGGCTGAGGGCCAGAAGTGAGGTAGGGAGGGTGGGAAATTTTATATGGAGAAAGCCACTTAGTGTGTTTAAGAAACCCAGTAGGCTGGGCTGGCCTGAACCTACAGAACGTCGGAAAGAGGTAGAAGCTTTTAGGAATTGGAGGCTTTCTCCTGGGGCAGTGGGGAGCCACAGGATGGTTTTTACCACCACCGCTGGTTAAGCACCTAAAAGAAAGCCCACATCTCAGTAACCATGATCTGTAGTTAGCCTCT... |
Task1_train_9978 | Gene F13A1 (coagulation factor XIII A chain) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Factor XIII, A subunit, deficiency of | ACAATTGTTCAGTGATGTCTGCCATGAATATAGGATCTCCTATACGTGATTATCATAAGACCATAACATGTGTTCGTTATGCTAGGTCTCCATGCTGGCTATCCACTGATTCACCATAATGGTTCATAAGATTATTTATGAGAAAATATCTACAGAGATTTTATAGTTTCTGGAAGCTGGTTTTTGAACTAATATGCAACTTGATCCTTCAGTGAATATAGTTAATAAAATGTAGAAAGAGAGAGGTGAAGAAAACTGTGACATTAACACCTGTTAGAGTCATTTTCTTTAGAGGATAAATGCTTGTTGTTTTCCTATCC... | ACAATTGTTCAGTGATGTCTGCCATGAATATAGGATCTCCTATACGTGATTATCATAAGACCATAACATGTGTTCGTTATGCTAGGTCTCCATGCTGGCTATCCACTGATTCACCATAATGGTTCATAAGATTATTTATGAGAAAATATCTACAGAGATTTTATAGTTTCTGGAAGCTGGTTTTTGAACTAATATGCAACTTGATCCTTCAGTGAATATAGTTAATAAAATGTAGAAAGAGAGAGGTGAAGAAAACTGTGACATTAACACCTGTTAGAGTCATTTTCTTTAGAGGATAAATGCTTGTTGTTTTCCTATCC... |
Task1_train_9979 | The gene F13A1 (coagulation factor XIII A chain) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TAGCTCTCTGTCTATCTACTTGTCTGCCTAGACTTACGTGTTGCAGTAACTACTAACAGTACCTTAAGCCAGTGTGTGGGCAGGACATCTGTGTCCAAGAAGGGACTGGCCTTATCCATCCTTTCTCCCGATTCACTCCACTTTGCTCCACTCCAATGTCAGACATTAACAATAAACAAACCATCTGGAGATTTAACCTATTTTGAGCCTGAGGCCTCCCAAATAGTGGGTCATTGCACTGTGTAATAATTCACTGTGTAATAATTCATCTTTTGTCTAAGACACACAGTGTCTTTTTTCATGTGTTGGCCTTGACCAAG... | TAGCTCTCTGTCTATCTACTTGTCTGCCTAGACTTACGTGTTGCAGTAACTACTAACAGTACCTTAAGCCAGTGTGTGGGCAGGACATCTGTGTCCAAGAAGGGACTGGCCTTATCCATCCTTTCTCCCGATTCACTCCACTTTGCTCCACTCCAATGTCAGACATTAACAATAAACAAACCATCTGGAGATTTAACCTATTTTGAGCCTGAGGCCTCCCAAATAGTGGGTCATTGCACTGTGTAATAATTCACTGTGTAATAATTCATCTTTTGTCTAAGACACACAGTGTCTTTTTTCATGTGTTGGCCTTGACCAAG... |
Task1_train_9980 | Gene F13A1 (coagulation factor XIII A chain) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Factor XIII, A subunit, deficiency of | CCTGCCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGAGCTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGTTGATCCACCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCCACTATAGTGATTTCTTAATTGTTAGCTCCATTACTGAAGCTGGGGAGATTTGCTTCCTTCAAATTTGAGTAAGTTCCTTGGAATTAGGATTTTAAAAAATAGTTTCTCATTTTTCTGGGAATATTTTCCAAAACCTCAGTAAGGGGACCATGATCTGTGACAG... | CCTGCCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGAGCTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGTTGATCCACCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCCACTATAGTGATTTCTTAATTGTTAGCTCCATTACTGAAGCTGGGGAGATTTGCTTCCTTCAAATTTGAGTAAGTTCCTTGGAATTAGGATTTTAAAAAATAGTTTCTCATTTTTCTGGGAATATTTTCCAAAACCTCAGTAAGGGGACCATGATCTGTGACAG... |
Task1_train_9981 | The gene F13A1 (coagulation factor XIII A chain), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Factor XIII, A subunit, deficiency of | GGGCTCTCGTAGCATCATAAACTATCAAATGACAGCTGGGAGGTTTGTGGAAATCTTCAAATCCCAAAGTGAAAACGAGGGGATAAAATTCCAAGTCCAGTAAGCTTGGTCTCCAAAGGCTTCTGTAAACTGCCACGGCAGGTACGATGAGATGAACACTGGTCTTTTGTGTGTTTCAAATTCCTGATCTTGCTGTCTGAATTTTGATGTTCGTTTTGCTTTCTAAATATTAACATTTCTCAGTCCTGCCTCCTCTTTTCCTCATTATTGCCATTTGTCTAGCTCATGCCCTTTCCATCTCTGGCTTGGAGGGATGACCA... | GGGCTCTCGTAGCATCATAAACTATCAAATGACAGCTGGGAGGTTTGTGGAAATCTTCAAATCCCAAAGTGAAAACGAGGGGATAAAATTCCAAGTCCAGTAAGCTTGGTCTCCAAAGGCTTCTGTAAACTGCCACGGCAGGTACGATGAGATGAACACTGGTCTTTTGTGTGTTTCAAATTCCTGATCTTGCTGTCTGAATTTTGATGTTCGTTTTGCTTTCTAAATATTAACATTTCTCAGTCCTGCCTCCTCTTTTCCTCATTATTGCCATTTGTCTAGCTCATGCCCTTTCCATCTCTGGCTTGGAGGGATGACCA... |
Task1_train_9982 | Consider a variant on Chromosome 6 in gene F13A1 (coagulation factor XIII A chain). Determine its clinical classification and disease relevance. | Pathogenic; Factor XIII, A subunit, deficiency of | GGCACGTCCTGAGTTGTGCTGGTCTCAGCCCCGCAGTCAGTCAGAGCATCTGATCAGGCATCATGCGTTGAAAACCTACTACAAGCCAGGCAAAGGAAGGGAAGAGGAGTCTCGGGCAGTGGTCTGCAGTGGAGGGTGGGTGAGGGTCCCAGGCCAGGAAGAACAGTCTCAGGGTGATGGGATATTTGAGTAAGGCACCAAAGGAACAAATGGTGTCAGGAAAAGGGGAAGTAATTTGGAGCAGGGACCTGAATGAGGACAGGGTTACCAAGGGCAAGATCTACCTTCGCTATTTTGTATTAACTCTGTTTAGGGCCTGT... | GGCACGTCCTGAGTTGTGCTGGTCTCAGCCCCGCAGTCAGTCAGAGCATCTGATCAGGCATCATGCGTTGAAAACCTACTACAAGCCAGGCAAAGGAAGGGAAGAGGAGTCTCGGGCAGTGGTCTGCAGTGGAGGGTGGGTGAGGGTCCCAGGCCAGGAAGAACAGTCTCAGGGTGATGGGATATTTGAGTAAGGCACCAAAGGAACAAATGGTGTCAGGAAAAGGGGAAGTAATTTGGAGCAGGGACCTGAATGAGGACAGGGTTACCAAGGGCAAGATCTACCTTCGCTATTTTGTATTAACTCTGTTTAGGGCCTGT... |
Task1_train_9983 | Given this variant in gene F13A1 (coagulation factor XIII A chain) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Factor XIII, A subunit, deficiency of | ATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCC... | ATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCC... |
Task1_train_9984 | With a mutation on Chromosome 6 in gene F13A1 (coagulation factor XIII A chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Factor XIII, A subunit, deficiency of | TAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATT... | TAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATT... |
Task1_train_9985 | The variant affects gene F13A1 (coagulation factor XIII A chain), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Factor XIII, A subunit, deficiency of | GAAAGATTCACAGAGGTATTCTAAGGTTTAAAGGAGCTAATAGAGGTGAAAGTGTTTTTGAAAACCATTGAATATTTTGTGTATATAAACAAGGGTATGACGGAAATGGAAATATTGCTCAAAATGTCTCAGGTCAGGACCTCTACCCCTTAACACCCAAATTCTCCCCCTCCAAAAATAAAACCAAACCGTTTTCCAAATGGATTTTCTCTGTCTAGTTTTAAATCTTTTAATTGGGATATAAATTTTCAAACTTAGAACTTCATAGGCTTTACATGATTAATAAAATCTCAGGGCAATTTGCATTAGGAGTATGTGTG... | GAAAGATTCACAGAGGTATTCTAAGGTTTAAAGGAGCTAATAGAGGTGAAAGTGTTTTTGAAAACCATTGAATATTTTGTGTATATAAACAAGGGTATGACGGAAATGGAAATATTGCTCAAAATGTCTCAGGTCAGGACCTCTACCCCTTAACACCCAAATTCTCCCCCTCCAAAAATAAAACCAAACCGTTTTCCAAATGGATTTTCTCTGTCTAGTTTTAAATCTTTTAATTGGGATATAAATTTTCAAACTTAGAACTTCATAGGCTTTACATGATTAATAAAATCTCAGGGCAATTTGCATTAGGAGTATGTGTG... |
Task1_train_9986 | Here is a genetic alteration in F13A1 (coagulation factor XIII A chain) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary factor XIII deficiency disease | GGTGTTCCTGAAGGCTAGATACTATATCCTATTTCCTTCTTTATCTATATTTTCTCCCTAGGTACAGATAACTCCCAAATATATATCTCTGATTTTCTTCTCCAGATTCACATACCTATTTGTCATTTCTGCTGTCTATCTATGGTTATCTCCAACTTAACATATTCAAAATCTTAATTTATATATCTGTAACTCTGATCCTCTCAGTATTTTTCATCTCTGTAAATATCACCCCATCAACCAGTTGCAAATGCCTCACATCTGGTTTTAAGATTACTATCAAGAGTTCATTTTTTGAACTGCACATGGCCCAGTTAACA... | GGTGTTCCTGAAGGCTAGATACTATATCCTATTTCCTTCTTTATCTATATTTTCTCCCTAGGTACAGATAACTCCCAAATATATATCTCTGATTTTCTTCTCCAGATTCACATACCTATTTGTCATTTCTGCTGTCTATCTATGGTTATCTCCAACTTAACATATTCAAAATCTTAATTTATATATCTGTAACTCTGATCCTCTCAGTATTTTTCATCTCTGTAAATATCACCCCATCAACCAGTTGCAAATGCCTCACATCTGGTTTTAAGATTACTATCAAGAGTTCATTTTTTGAACTGCACATGGCCCAGTTAACA... |
Task1_train_9987 | A mutation in F13A1 (coagulation factor XIII A chain), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Factor XIII, A subunit, deficiency of | TGATGTTTTGATCAATATGTGATGTTTTGATCAAAATATACATTGTGGATTGATTAATTCAAGCTAATTAACATATTCATTCCTTCACATACCATTTCTTTGTGGTGAGAATATTTAAAATCTACTCTTTTAGTAATTTGGAAATATACATTATTATTAACTATAGTCACCATGCTGTGGAATAGGTCACTAAAACTCATTCCTTCCATCTAACTGAAATTTTGTATTCTTTGACCAACCCCTTGGGAGACTAAAAATGTATACAGAAAGACTTCCCACTCAAGAACATGTTTGACTTTTCATTGGTTTCTCATGTTTTT... | TGATGTTTTGATCAATATGTGATGTTTTGATCAAAATATACATTGTGGATTGATTAATTCAAGCTAATTAACATATTCATTCCTTCACATACCATTTCTTTGTGGTGAGAATATTTAAAATCTACTCTTTTAGTAATTTGGAAATATACATTATTATTAACTATAGTCACCATGCTGTGGAATAGGTCACTAAAACTCATTCCTTCCATCTAACTGAAATTTTGTATTCTTTGACCAACCCCTTGGGAGACTAAAAATGTATACAGAAAGACTTCCCACTCAAGAACATGTTTGACTTTTCATTGGTTTCTCATGTTTTT... |
Task1_train_9988 | This variant impacts the gene DSP (desmoplakin) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | ACCTGAGCCCCTGACCAACTTTCTCCTTCATTTCTCTAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTA... | ACCTGAGCCCCTGACCAACTTTCTCCTTCATTTCTCTAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTA... |
Task1_train_9989 | The following genetic variant occurs in DSP (desmoplakin) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | TAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGC... | TAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGC... |
Task1_train_9990 | A mutation on Chromosome 6 affecting DSP (desmoplakin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiovascular phenotype | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... |
Task1_train_9991 | This sequence variant lies in DSP (desmoplakin) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... |
Task1_train_9992 | Located on Chromosome 6, this mutation impacts DSP (desmoplakin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... | AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATA... |
Task1_train_9993 | This variant affects gene DSP (desmoplakin) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... |
Task1_train_9994 | This variant lies on Chromosome 6 and affects the gene DSP (desmoplakin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... |
Task1_train_9995 | Here’s a variant in DSP (desmoplakin) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... | TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAA... |
Task1_train_9996 | A variant was discovered on Chromosome 6, affecting DSP (desmoplakin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | AGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCA... | AGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCA... |
Task1_train_9997 | Gene DSP (desmoplakin) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAG... | CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAG... |
Task1_train_9998 | This variant affects gene DSP (desmoplakin) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Arrhythmogenic right ventricular dysplasia 8 | CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAG... | CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAG... |
Task1_train_9999 | Given a variant located on Chromosome 6 and affecting DSP (desmoplakin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGA... | CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGA... |
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